Mutation details:

Protein level identifier (NP_001243371):

p.Ser248Alafs*65

cDNA level identifier (NM_001256442):

c.741delC

Gene level identifier:

g.1940delC

Reference, alternative allele:

AC, A

Genomic location hg(19)

16:29825112 (not available on ExAC)

Gene name:

PRRT2

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).